Association of TNFAIP3 With Immune-mediated TTP | NCT06928233

Studies
Association of TNFAIP3 With Immune-mediated TTP

NCT06928233

Sponsor

Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico

Status

Recruiting

Last Update Posted

Mar 27, 2026Actual

Enrollment

400Estimated

Phase

Not Applicable

Conditions

Thrombotic Thrombocytopenic Purpura, Acquired

Interventions

blood sampling

Countries

Italy

Protocol Section

Identification Module Status Module Sponsor/Collaborators Module Oversight Module Description Module Conditions Module Design Module Arms/Interventions Module Outcomes Module Eligibility Module Contacts/Locations Module References Module IPD Sharing Statement Module

Results Section

Participant Flow Module Baseline Characteristics Module Outcome Measures Module Adverse Events Module More Info Module

Annotation Section

Annotation Module

Document Section

Large Document Module

Derived Section

Miscellaneous Info Module Condition Browse Module Intervention Browse Module

Protocol Section

Identification Module

NCT ID

Results Section

No data available

No data is available for this block.

Annotation Section

No data available

No data is available for this block.

Document Section

No data available

No data is available for this block.

Derived Section

Miscellaneous Info Module

Version Holder

ID	Type	Description	Link
2022-0469	Other Grant/Funding Number	Fondazione Cariplo

Status Module

Record Verification Date

May 2025

Overall Recruitment Status or Expanded Access Status

Recruiting

Last Known Status

Not provided

Delayed Posting

Not provided

Why Stopped

Not provided

Expanded Access Info

Start Date

Apr 7, 2025Actual

Primary Completion Date

Apr 2026Estimated

Completion Date

Apr 2026Estimated

First Submitted Date

Apr 7, 2025

First Submission Date that Met QC Criteria

Apr 7, 2025

First Posted Date

Apr 15, 2025Actual

Results Waived

Not provided

Results First Submitted Date

Not provided

Results First Submitted that Met QC Criteria

Not provided

Results First Posted Date

Not provided

Certification/Extension (aka Delayed Results) First Submitted Date

Not provided

Certification/Extension First Submitted that Passed QC Review

Not provided

Certification/Extension First Posted Date

Not provided

Last Update Submitted Date

Mar 26, 2026

Last Update Posted Date

Mar 27, 2026Actual

Sponsor/Collaborators Module

Responsible Party, by Official Title

Ilaria Mancini, PhD, Fondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoPrincipal Investigator

Lead Sponsor

Fondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoOTHER

Collaborators

Not provided

Oversight Module

Has Data Monitoring Committee (DMC)

Is FDA Regulated Drug

Is FDA Regulated Device

Is Unapproved Device

Not provided

Pediatric Postmarket Surveillance of a Device Product

Not provided

Product Exported from US

Not provided

FDAAA801 Violation

Not provided

Description Module

Brief Summary

This study aims to investigate whether genetic variation in the TNFAIP3 locus is associated with immune-mediated thrombotic thrombocytopenic purpura (iTTP), and whether such association is mediated by decreased expression of A20 (TNFAIP3). The study includes a case-control design to assess genotype-expression association and a cohort study to evaluate clinical outcomes such as disease relapse.

Detailed Description

Not provided

Design Module

Study Type

Interventional

Number of References to an Expanded Access Study

Not provided

Expanded Access Types

Not provided

Patient Registry

Not provided

Target Follow-Up Duration

Not provided

Phases

Not Applicable

Interventional Study Design

Allocation

Biospecimen

No data available

No data is available for this block.

Enrollment

400Estimated

Arms/Interventions Module

Arm Groups

Label	Type	Description	Intervention Names
Patients with iTTP	Other	Intervention: blood sampling during standard collection for routine testing, with additional sample for experimental analyses.	Procedure: blood sampling
Healthy donors	Other	Intervention: blood sampling during standard donation, with an additional sample collected for experimental analyses.	Procedure: blood sampling

Interventions

Name	Type	Description	Arm Group Labels	Other Names
blood sampling	Procedure	Blood sampling for experimental analyses.	Healthy donors Patients with iTTP

Outcomes Module

Primary Outcomes

Measure	Description	Time Frame
Allele frequency of TNFAIP3 variants in cases vs controls		Baseline

Secondary Outcomes

Measure	Description	Time Frame
TNFAIP3 (A20) mRNA expression levels in peripheral blood	TNFAIP3 (A20) mRNA expression levels in peripheral blood of cases versus controls	Baseline
Association between TNFAIP3 genotype and gene expression

Other Outcomes

Not provided

Eligibility Module

Eligibility Criteria

Patients:

Inclusion Criteria:

Diagnosis of iTTP
Above 12 years of age
Caucasian, Italian origin
Written informed consent to participate in the study

Exclusion Criteria:

Patients who do not meet the above-listed criteria will be excluded from participation in the study.

Controls will be healthy Italian volunteers of Caucasian ethnicity, with no history of thrombotic thrombocytopenic purpura, frequency-matched to cases by age and sex, and who have provided written informed consent to participate in the study.

Accepts Healthy Volunteers

Yes

Sex

All

Sex/Gender Based

Not provided

Sex/Gender Description

Not provided

Minimum Age

12 Years

Maximum Age

Not provided

Standard Ages

ChildAdultOlder Adult

Study Population

Not provided

Sampling Method

Not provided

Contacts/Locations Module

Central Contacts

Name	Role	Phone	Extension	Email
Ilaria Mancini, PhD	Contact	+390255035414		ilaria.mancini@guest.unimi.it

Overall Officials

Name	Affiliation	Role
Ilaria Mancini, PhD	Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico	Principal Investigator

Locations

Facility	Status	City	State	ZIP	Country	Contacts
Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico	Recruiting	Milan		20122	Italy

IPD Sharing Statement Module

Plan to Share IPD

Description

Not provided

Types

Not provided

Time Frame

Not provided

Access Criteria

Not provided

URL

Not provided

Condition Browse Module

MeSH Terms

ID	Term
C536901	Thrombotic thrombocytopenic purpura, acquired

Ancestor Terms

Not provided

Browse Leaves

Not provided

Browse Branches

Not provided

Intervention Browse Module

MeSH Terms

ID	Term
D001800	Blood Specimen Collection

Ancestor Terms

ID	Term
D013048	Specimen Handling
D019411	Clinical Laboratory Techniques
D019937	Diagnostic Techniques and Procedures
D003933	Diagnosis

Browse Leaves

Not provided

Browse Branches

Not provided